Variant report

Variant	nsv1035309
Chromosome Location	chr12:74339118-74410661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:74338246..74340293-chr17:57922225..57924227,2	MCF-7	breast:
2	chr12:74406595..74409366-chr12:74411193..74413349,2	MCF-7	breast:
3	chr12:74389722..74391980-chr12:74584509..74586133,2	K562	blood:

Variant related genes	Relation type
ENSG00000264155	chromatin interactions

Extended variants
information (count: 507 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144541058	chr12:74339176-74339177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569569596	chr12:74339182-74339183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535504468	chr12:74339187-74339188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548958463	chr12:74339277-74339278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7311068	chr12:74339372-74339373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs535098410	chr12:74339399-74339400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376717942	chr12:74339410-74339411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557945518	chr12:74339451-74339452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578128857	chr12:74339461-74339462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537592785	chr12:74339471-74339472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570977438	chr12:74339502-74339503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146148565	chr12:74339508-74339509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140032660	chr12:74339524-74339525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143559100	chr12:74339567-74339568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541988735	chr12:74339607-74339608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541137554	chr12:74339610-74339611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563985112	chr12:74339611-74339612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371324789	chr12:74339629-74339630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549221006	chr12:74339678-74339679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533155987	chr12:74339688-74339689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145763832	chr12:74339752-74339753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563285672	chr12:74339821-74339822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529137860	chr12:74339838-74339839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10879712	chr12:74339853-74339854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs561686127	chr12:74339891-74339892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185944925	chr12:74339919-74339920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111460084	chr12:74339920-74339921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546685596	chr12:74339969-74339970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528433047	chr12:74340035-74340036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148965496	chr12:74340036-74340037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551852411	chr12:74340074-74340075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142868975	chr12:74340079-74340080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150991172	chr12:74340080-74340081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189971027	chr12:74340113-74340114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557572864	chr12:74340114-74340115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142153583	chr12:74340142-74340143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146189731	chr12:74340188-74340189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138897031	chr12:74340207-74340208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572017991	chr12:74340287-74340288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555633351	chr12:74340299-74340300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181138837	chr12:74340310-74340311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557882722	chr12:74340438-74340439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577656732	chr12:74340492-74340493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1829126	chr12:74340493-74340494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563123320	chr12:74340531-74340532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571999090	chr12:74340718-74340719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529028727	chr12:74340737-74340738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542530833	chr12:74340746-74340747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559335725	chr12:74340763-74340764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116921107	chr12:74340793-74340794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74339000-74339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:74339400-74339800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:74339800-74343600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:74343400-74343600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:74343400-74345000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:74343400-74345200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:74343600-74344600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:74343600-74344800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:74343600-74344800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:74343600-74345200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:74343600-74346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:74344000-74344600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:74344000-74344800	Enhancers	Brain Hippocampus Middle	brain
14	chr12:74344200-74344800	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:74344200-74344800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr12:74344400-74344800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:74344600-74345000	Enhancers	Brain Anterior Caudate	brain
18	chr12:74344800-74345000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:74345000-74345800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:74345000-74346000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:74345200-74346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:74345800-74346000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
23	chr12:74345800-74346400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:74346000-74346200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:74346000-74346200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:74346400-74346600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:74367000-74368000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:74367200-74367600	Enhancers	Brain Germinal Matrix	brain
29	chr12:74367600-74368000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:74371800-74372200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr12:74390600-74391000	Enhancers	Brain Hippocampus Middle	brain
32	chr12:74404800-74405000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr12:74404800-74405600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:74404800-74406000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr12:74404800-74406000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:74405400-74406200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr12:74406200-74408200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:74408200-74408400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:74408200-74408600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr12:74408400-74408600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr12:74408600-74413400	Weak transcription	H9 Cell Line	embryonic stem cell

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